G8A (p.Gly8Ala) variant of BCL2 (Apoptosis regulator Bcl-2)
G8A (p.Gly8Ala) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G8A (p.Gly8Ala) variant details
- p.Gly8Ala
- cosmic curated COSV61371
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.12
- MetaLR 0.03
- MetaSVM -0.96
- CADD 23.80
- PolyPhen-2 0.87
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available